SCARA5
protein-codingscavenger receptor class A member 5, the group of MicroRNA protein coding host genes|Scavenger receptor cysteine rich domain containing|Scavenger receptors
Gene summary
Predicted to enable ferritin receptor activity and scavenger receptor activity. Predicted to be involved in several processes, including intracellular iron ion homeostasis; iron ion transmembrane transport; and protein homotrimerization. Predicted to act upstream of or within cellular response to heat. Predicted to be located in cell surface and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~122.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SCARA5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173833.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 92 | 2 | 94 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 95 | 2 | 0 | 97 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_776194.2 | 8 | MANE Select | |
| Ensembl | ENSP00000346990.3 | 8 | MANE Select | |
| RefSeq | NP_001400130.1 | 7 | Standard | |
| RefSeq | NP_001400131.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- Binding and Uptake of Ligands by Scavenger Receptors
- Scavenging by Class A Receptors
Biological Process
- cellular iron ion homeostasis
- endocytosis
- receptor-mediated endocytosis
- cellular response to heat
- iron ion transmembrane transport
Molecular Function
- scavenger receptor activity
- ferritin receptor activity
Cellular Component
- integral component of plasma membrane
- cell surface
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000354914
- Coding exons
- 8
- Length
- 122846
- Individuals with no LoFs
- 125726
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 22
- Defined
- 125748
- p
- 0.0000875
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.382 | 287 | 306 | 0.939 | 0.0000214 | 3122 |
| Missense (PolyPhen) | 84 | 97.454 | 0.86194 | 989 | ||
| Synonymous | 1.67 | 115 | 140 | 0.820 | 0.0000106 | 1036 |
| Loss of Function | 1.79 | 11 | 19.5 | 0.563 | 0.00000104 | 216 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000062 | rare |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00011 | 0.000097 | rare |
| South Asian | 0.000068 | 0.000065 | rare |
| Other | 0.00018 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Ferritin receptor that mediates non-transferrin- dependent delivery of iron. Mediates cellular uptake of ferritin- bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type- specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Binds preferrentially ferritin light chain (FTL) compared to heavy chain (FTH1). {ECO:0000255|HAMAP- Rule:MF_03070}.;
Recessive Scores
- pRec
- 0.154
Intolerance Scores
- LoFtool
- 0.162
- RVIS EVS
- 0.62
- RVIS percentile EVS
- 83.42
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.544
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |